Canonical Allele Identifier: CA2122486908

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395016T= , CM000676.2:g.21395016T=	GRCh38
NC_000014.8:g.21863175T= , CM000676.1:g.21863175T=	GRCh37
NC_000014.7:g.20933015T=	NCBI36
NG_021249.1:g.47283A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4449A=	ENSP00000406288.3:p.Arg1483=
ENST00000555935.2:c.2986A=
ENST00000555962.6:c.*671A=	ENSP00000495174.1:n.*671A=
ENST00000557364.6:c.5286A=	ENSP00000451601.1:p.Arg1762=
ENST00000643469.1:c.5286A=	ENSP00000495070.1:p.Arg1762=
ENST00000645206.1:n.4442A=
ENST00000645929.1:c.4449A=	ENSP00000494402.1:p.Arg1483=
ENST00000646340.1:c.5292A=	ENSP00000496730.1:p.Arg1764=
ENST00000646647.2:c.5286A= MANE Select	ENSP00000495240.1:p.Arg1762=
ENST00000399982.6:c.5286A=	ENSP00000382863.2:p.Arg1762=
ENST00000430710.7:c.4449A=	ENSP00000406288.3:p.Arg1483=
ENST00000557364.5:c.5286A=	ENSP00000451601.1:p.Arg1762=
NM_001170629.1:c.5286A=	NP_001164100.1:p.Arg1762=
NM_020920.3:c.4449A=	NP_065971.2:p.Arg1483=
NM_001170629.2:c.5286A= MANE Select	NP_001164100.1:p.Arg1762=
NM_020920.4:c.4449A=	NP_065971.2:p.Arg1483=